Canonical Allele Identifier: CA368173962

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92129104G>C (hg19) ; chr7:g.92499790G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499790G>C , CM000669.2:g.92499790G>C	GRCh38
NC_000007.13:g.92129104G>C , CM000669.1:g.92129104G>C	GRCh37
NC_000007.12:g.91967040G>C	NCBI36
NG_008341.1:g.33742C>G
NG_008341.2:g.33742C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2632C>G MANE Select	ENSP00000248633.4:p.Leu878Val
ENST00000248633.8:c.2632C>G	ENSP00000248633.4:p.Leu878Val
ENST00000428214.5:c.2461C>G	ENSP00000394413.1:p.Leu821Val
ENST00000438045.5:c.1666C>G	ENSP00000410438.1:p.Leu556Val
ENST00000484913.5:n.2671C>G
ENST00000496420.5:n.2524C>G
NM_000466.2:c.2632C>G	NP_000457.1:p.Leu878Val
NM_001282677.1:c.2461C>G	NP_001269606.1:p.Leu821Val
NM_001282678.1:c.2008C>G	NP_001269607.1:p.Leu670Val
XM_005250433.3:c.883C>G	XP_005250490.1:p.Leu295Val
XR_242246.3:n.2728C>G
XM_017012319.2:c.883C>G	XP_016867808.1:p.Leu295Val
XR_001744808.2:n.1659C>G
XR_242246.5:n.2679C>G
NM_000466.3:c.2632C>G MANE Select	NP_000457.1:p.Leu878Val
NM_001282677.2:c.2461C>G	NP_001269606.1:p.Leu821Val
NM_001282678.2:c.2008C>G	NP_001269607.1:p.Leu670Val